Clinical Neuropathology最新文献

Cerebellar liponeurocytoma: An updated comprehensive review of clinicopathologic, immunohistochemical, and molecular features of an unusual but distinct tumor.

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-02-10 DOI: 10.5414/NP301660

Giuseppe Broggi, Serena Salzano, Manuel Mazzucchelli, Giovanni Nunzio Rosano, Gaetano Magro, Rosario Caltabiano, Valeria Barresi

{"title":"Cerebellar liponeurocytoma: An updated comprehensive review of clinicopathologic, immunohistochemical, and molecular features of an unusual but distinct tumor.","authors":"Giuseppe Broggi, Serena Salzano, Manuel Mazzucchelli, Giovanni Nunzio Rosano, Gaetano Magro, Rosario Caltabiano, Valeria Barresi","doi":"10.5414/NP301660","DOIUrl":"https://doi.org/10.5414/NP301660","url":null,"abstract":"Cerebellar liponeurocytoma (CL) is a rare WHO grade 2 tumor characterized by advanced neuronal differentiation and variable lipomatous features. Initially classified as a subtype of medulloblastoma, CL was later considered as a distinct entity owing to its peculiar morphological and molecular features and significant better outcome. Typically affecting adults, CL often presents with symptoms related to cerebellar dysfunction, including headaches, ataxia, and gait disturbances. On magnetic resonance imaging, this tumor presents as a well-defined, heterogeneous mass with lipomatous components, which may be less or more apparent depending on their extent. Histologically, CL is composed of neurocytic cells and lipidized tumor cells; the immunohistochemical positivity for synaptophysin and NeuN confirms the neuronal differentiation of neoplastic cells. In spite of its morphological similarity to medulloblastoma, CL lacks the genetic alterations commonly found in this tumor, but some cases display TP53 mutations. Complete surgical resection is the gold standard treatment, whereas the benefit of adjuvant radiotherapy is controversial. CL generally harbors a favorable prognosis, with low recurrence rates in cases with incomplete resection or high proliferative index. The present paper comprehensively reviews the literature about CL, emphasizing the clinicopathologic and molecular features of this unusual but distinct neuropathological entity.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cerebellar chromoblastomycosis in an immunocompetent individual: A rare case report with brief literature review.

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-02-10 DOI: 10.5414/NP301643

Mousumi Biswas, Arun Gowda Keelara, Shruti Gupta, Niraj Kumari

引用次数: 0

Sural nerve injury in Behçet's disease patients treated with thalidomide.

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-02-10 DOI: 10.5414/NP301657

Hui Wang, Jinjun Luo, Yun Yuan, Lingchao Meng

{"title":"Sural nerve injury in Behçet's disease patients treated with thalidomide.","authors":"Hui Wang, Jinjun Luo, Yun Yuan, Lingchao Meng","doi":"10.5414/NP301657","DOIUrl":"https://doi.org/10.5414/NP301657","url":null,"abstract":"Introduction: Thalidomide has shown exceptional results in the management of Behçet's disease. Despite its efficacy, thalidomide is associated with a number of adverse effects, including peripheral neuropathy. This study aims to characterize the pathologic features of neuropathy in Behçet's disease patients who received thalidomide therapy.Materials and methods: Consecutive adult Behçet's disease patients who received thalidomide and developed neuropathy were collected. Clinical manifestations, electrophysiologic evaluations, and pathologic findings were studied.Results: Three patients who met the inclusion criteria were collected. Sensory deficits, particularly in the lower extremities, emerged in a length-dependent manner 6 - 12 months after initiation of thalidomide therapy. Symptoms remained unchanged after discontinuation of thalidomide for 2 years. Electrophysiologic evaluations showed sensory axonal polyneuropathy in all 3 patients who also received sural nerve biopsy. Histological findings confirmed axonal degenerations. A noteworthy finding was neurofilament accumulation in both myelinated and unmyelinated axons.Discussion: Sensory fibers, particularly in the lower extremities, were susceptible to thalidomide therapy. The features of thalidomide-induced neuropathy are characterized as axonal degeneration.Conclusion: Earlier recognition of thalidomide-induced sensory axonal neuropathy should be carried out in patients with Behçet's disease during the thalidomide therapy.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical and molecular assessment of cystic sellar salivary gland-like lesions.

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-02-10 DOI: 10.5414/NP301668

Joanne Lin, Timothy H Ung, Kurtis D Davies, Christie G Turin, Bette K Kleinschmidt-DeMasters

{"title":"Clinical and molecular assessment of cystic sellar salivary gland-like lesions.","authors":"Joanne Lin, Timothy H Ung, Kurtis D Davies, Christie G Turin, Bette K Kleinschmidt-DeMasters","doi":"10.5414/NP301668","DOIUrl":"https://doi.org/10.5414/NP301668","url":null,"abstract":"Background: Symptomatic sellar salivary gland-like lesions (SSGLs) are uncommon, with fewer than two dozen case reports. Prior case reports have also not detailed pre- or postoperative endocrinopathies to determine if these lesions can be clinically distinguished prior to biopsy from Rathke cleft cysts (RCCs). In addition, prior molecular testing was attempted to provide further insights as to whether these might be developmental lesions or true neoplasms, but testing was unsuccessful.Materials and methods: Report of 2 new cases of SSGLs with molecular testing to assess for potential gene mutations, copy number alterations, and fusions with literature review detailing demographic, clinical, endocrinological, neuroimaging, histological, and outcome features.Results: A 53-year-old female and 33-year-old male developed large sellar lesions. The woman presented with fatigue and sudden-onset visual changes and the man with apoplectic-like severe headache. Biopsy specimens for both patients demonstrated clusters of histologically benign salivary gland-like acini accompanied by varying amounts of mucin and lymphocytic inflammation. None showed pituitary tumor. Postoperatively, one case developed persistent diabetes insipidus. Molecular testing revealed a lack of pathogenic mutations, copy number alterations, or gene fusions in both cases.Conclusion: SGGLs differ histologically and sometimes in size from RCCs, although both can be cystic, contain abundant mucin, and may result in postoperative transient or permanent diabetes insipidus; they cannot be completely distinguished preoperatively from RCCs. Molecular testing did not demonstrate any mutations, copy number changes, or fusions for either case. Lack of pathogenic genetic alterations suggest these lesions may not be true neoplasms.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143383703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A rare case of glomus tumor of uncertain malignant potential of orbit with BRAF oncogenic mutation in a young female. 一例罕见的眼眶恶性潜能不确定的血管球瘤伴BRAF致癌突变的年轻女性。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2025-01-22 DOI: 10.5414/NP301653

Sathyakumar Rima, Rangasamy Thiruvengadam Rajeswarie, Saritha Aryan, Prashant Alle

引用次数: 0

Retracing RAS signaling by correlating protein expression in different subtypes of neurofibromatosis 1-associated nerve sheath tumors. 通过关联神经纤维瘤病 1 相关神经鞘瘤不同亚型中的蛋白质表达，重新追踪 RAS 信号转导。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2024-07-01 DOI: 10.5414/NP301624

Christian Hagel, Louisa K N Nörnberg, Reinhard E Friedrich

{"title":"Retracing RAS signaling by correlating protein expression in different subtypes of neurofibromatosis 1-associated nerve sheath tumors.","authors":"Christian Hagel, Louisa K N Nörnberg, Reinhard E Friedrich","doi":"10.5414/NP301624","DOIUrl":"10.5414/NP301624","url":null,"abstract":"Aims: Expression patterns of key proteins involved in RAS signaling and connected pathways were determined and correlated to possibly provide information for therapeutic application of RAS inhibitors in neurofibromatosis type 1 (NF1)-associated peripheral nerve sheath tumors (PNST).Materials and methods: Clinical variables (age, sex), histological parameters (cell density, mitoses), and expression of immunohistochemically evaluated ligand and receptor proteins (neuregulin 1 (NRG1), ErbB2, ErbB3), RAS pathway proteins (mTor, Rho, phosphorylated MEK), transcription factors (Pax7, Sox9), and proliferation marker Ki-67, were correlated in cutaneous (CNF, n = 136), diffuse (DNF, n = 123)/diffuse plexiform (DPNF, n = 113), and plexiform neurofibroma (PNF, n = 126), and in malignant PNST (MPNST, n = 22).Results: In CNF, NRG1 correlated with Ki-67 and Pax7. Further, mTOR correlated with ErbB3, Sox9, Pax7, and Ki-67. In DNF/DPNF, expression of NRG1 correlated with pMEK and Pax7. mTOR correlated with pMEK, Sox9, and Pax7. Noteworthy, pMEK was weakly expressed in some DNF but not in DPNF. ErbB3 correlated with mTor and Ki-67. Furthermore, Rho correlated with Pax7 and Ki-67. In PNF, ErbB3 expression was associated with Sox9, mTOR, pMEK, and Pax7 as well as mTOR with Sox9 and Pax7, Rho with pMEK and Pax7, and pMEK with Pax7 and Sox9. In MPNST, only few correlations were observed, ErbB2 correlated with Ki-67, and Rho with pMEK.Conclusion: Signaling networks of the RAS pathway could be retraced by correlation analysis of protein expression in subgroups of NF1 associated benign PNST. In regard to treatment of PNST, MEK inhibitors, which are presently evaluated for PNF, may possibly also be effective to some extent in DNF.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"104-112"},"PeriodicalIF":0.8,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141181125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evaluation of ST6Gal1 expression and clinicopathological significance in human glioma. 评估 ST6Gal1 在人类胶质瘤中的表达和临床病理意义。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2024-07-01 DOI: 10.5414/NP301631

Ying Zhou, Yutong Wu, Dacuan Shen, Qimin Wang, Aline M Thomas, Shen Li, Feng Shi, Eric Wing-Fai Lam, Huamin Qin

{"title":"Evaluation of ST6Gal1 expression and clinicopathological significance in human glioma.","authors":"Ying Zhou, Yutong Wu, Dacuan Shen, Qimin Wang, Aline M Thomas, Shen Li, Feng Shi, Eric Wing-Fai Lam, Huamin Qin","doi":"10.5414/NP301631","DOIUrl":"10.5414/NP301631","url":null,"abstract":"Glioma is the most common brain tumor, accounting for a large majority of cancer-related deaths. β-galactoside α2, 6 sialyltranferase 1 (ST6Gal1), the primary enzyme responsible for the conjugation of α2, 6 sialic acids to protein and lipid targets, is strongly associated with the occurrence and development of several brain tumor types. Still, the expression, targets, and functions of ST6Gal1 in glioma patients remain undetermined. As sialylation of the Ig-like cell adhesion family molecules have prominent roles in the latter's regulation in other biological contexts, we screened for members that have potential to be regulated by ST6Gal1 in silico and examined co-expressed protein modules using data derived from the Cancer Genome Atlas (TCGA) database, and we identified neural cell adhesion molecule (NCAM1) as a major ST6Gal1-interacting target. Bioinformatic binding analysis confirmed the interaction of ST6Gal1 and NCAM1. Immunohistochemistry was then used to evaluate post-operative samples from 156 patients with gliomas. ST6Gal1 and NCAM1 were co-expressed in gliomas, and their expression correlated significantly (p = 0.002) by univariate analysis. Our study also found that the expression levels of both ST6Gal1 and NCAM1 corresponded negatively with glioma grade, isocitrate dehydrogenase (IDH) mutation, and proliferation index (Ki67). Consistently, Kaplan-Meier survival curves showed that lower ST6Gal1 and NCAM1 protein levels are linked to unfavorable outcomes in glioma patients (p = 0.018 and p < 0.001, respectively). Our data indicate that ST6Gal1 may participate in the inhibition of oncogenesis and malignant progression via interacting with and targeting NCAM1 in glioma, thus presenting a novel strategy for intervention.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"113-126"},"PeriodicalIF":0.8,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141908438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

JCV granule cell neuronopathy: A rare case manifestation. JCV颗粒细胞神经元病：一种罕见的病例表现。

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2024-07-01 DOI: 10.5414/NP301639

Rumela Nayak, Shilpa Rao, Nirmala Subramanian

引用次数: 0

Clinical Neuropathology 4-2024. 临床神经病理学 4-2024.

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2024-07-01 DOI: 10.5414/NPP43103

Christian Mawrin

引用次数: 0

Hypertrophy of the inferior olivary nucleus in corticobasal degeneration: A neuropathological study. 皮质基底层变性的下橄榄核肥大：神经病理学研究

IF 0.8 4区医学

Clinical Neuropathology Pub Date : 2024-05-01 DOI: 10.5414/NP301616

Daisuke Tahara, Nao Tahara, Akio Akagi, Yuichi Riku, Jun Sone, Hiroaki Miyahara, Atsushi Nagai, Mari Yoshida, Yasushi Iwasaki

{"title":"Hypertrophy of the inferior olivary nucleus in corticobasal degeneration: A neuropathological study.","authors":"Daisuke Tahara, Nao Tahara, Akio Akagi, Yuichi Riku, Jun Sone, Hiroaki Miyahara, Atsushi Nagai, Mari Yoshida, Yasushi Iwasaki","doi":"10.5414/NP301616","DOIUrl":"10.5414/NP301616","url":null,"abstract":"Aims: Corticobasal degeneration (CBD) is a rare neurodegenerative disorder. The status of the inferior olivary nucleus (ION) in CBD has been inadequately investigated. In this study, we conducted a pathological investigation of the ION in CBD.Materials and methods: We reviewed the data of Japanese patients with pathologically confirmed CBD who underwent consecutive autopsies between 1985 and 2020 at our institute. We retrospectively examined clinical data from medical records and clinicopathological conferences and semi-quantitatively assessed the ION, central tegmental tract, superior cerebellar peduncle, and dentate nucleus.Results: Of the 32 patients included, 14 (43.8%) had hypertrophy of the ION (HION), of whom 6 showed laterality. In the 14 HION cases, with or without laterality, except in 1 unevaluable case, atrophy/myelin pallor of the central tegmental tract was observed on the same side as the hypertrophy. Ten patients with HION, with or without laterality, had atrophy/myelin pallor of the superior cerebellar peduncle on the contralateral side to the hypertrophy.Conclusion: The ION presents with hypertrophic changes in CBD. The lesion is a primary degeneration in CBD and is related to the degeneration of the Guillain-Mollaret triangle. This finding contributes to the elucidation of the specific pathological characteristics of CBD.","PeriodicalId":55251,"journal":{"name":"Clinical Neuropathology","volume":" ","pages":"74-82"},"PeriodicalIF":0.8,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141180857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0